ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.209_211AGC[5] (p.Gln73dup) (rs398124201)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081278 SCV000113186 uncertain significance not provided 2012-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000187436 SCV000241027 likely benign not specified 2014-07-23 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000408838 SCV000484839 likely benign Rett syndrome, congenital variant 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV000408838 SCV000677043 likely benign Rett syndrome, congenital variant 2019-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715903 SCV000846735 likely benign History of neurodevelopmental disorder 2016-10-12 criteria provided, single submitter clinical testing Other data supporting benign classification;Does not segregate with disease in family study (genes with incomplete penetrance)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000081278 SCV001149197 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing

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